Linked Data
dbSNP Id:
rs1555142208
gnomAD v2:
11-128761396-AAAGG-A
gnomAD v3:
11-128891501-AAAGG-A
gnomAD v4:
11-128891501-AAAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891502_128891505del , CM000673.2:g.128891502_128891505del | GRCh38 |
| NC_000011.9:g.128761397_128761400del , CM000673.1:g.128761397_128761400del | GRCh37 |
| NC_000011.8:g.128266607_128266610del | NCBI36 |
| NG_023406.2:g.5085_5088del , LRG_333:g.5085_5088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-230_-227del MANE Select | ENSP00000433295.1:n.-230_-227del | |
| ENST00000338350.4:c.-319_-316del | ENSP00000339960.4:n.-319_-316del | |
| ENST00000529694.5:c.-230_-227del | ENSP00000433295.1:n.-230_-227del | |
| NM_000890.3:c.-230_-227del , LRG_333t1:c.-230_-227del | NP_000881.3:n.-230_-227del | |
| NM_000890.4:c.-230_-227del | NP_000881.3:n.-230_-227del | |
| NM_001354169.1:c.-319_-316del | NP_001341098.1:n.-319_-316del | |
| NM_000890.5:c.-230_-227del MANE Select | NP_000881.3:n.-230_-227del | |
| NM_001354169.2:c.-319_-316del | NP_001341098.1:n.-319_-316del |